Format

Send to:

Choose Destination
  • Quoted phrase not found.

Craniosynostosis syndrome(CRS1)

MedGen UID:
1163
Concept ID:
C0010278
Disease or Syndrome
Synonyms: 1 Craniosynostoses, Type; 1 Craniosynostosis, Type; Craniostenoses; Craniostenosis; Craniosynostose; Craniosynostoses; Craniosynostoses, Type 1; Craniosynostosis; Craniosynostosis Plagiocephaly; Craniosynostosis, Type 1; Plagiocephaly, Craniosynostosis; Plagiocephaly, Synostotic; Synostotic Plagiocephaly; Type 1 Craniosynostoses; Type 1 Craniosynostosis
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
Inheritance with unknown mechanism
MedGen UID:
831588
Concept ID:
CN227389
Intellectual Product
Source: Orphanet
Describes an inherited disorder with unknown mode of inheritance.
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
X-linked recessive inheritance (HPO, OMIM, Orphanet)
not inherited (Orphanet)
SNOMED CT: CSO - Craniosynostosis (57219006); Premature cranial suture closure (57219006); Craniosynostosis syndrome (57219006); Craniostosis (57219006); Craniosynostosis (57219006); Premature closure of cranial sutures (57219006); Congenital ossification of cranial sutures (57219006); Congenital ossification of sutures of skull (57219006); Craniostenosis (57219006)
 
Related genes: TWIST1, TCF12, MSX2, FGFR2, FGFR3, FGFR1, ERF
OMIM®: 123100; 601622
HPO: HP:0001363
Orphanet: ORPHA1531

Definition

A congenital disorder characterized by earlier than normal closure of some or all sutures of the infant skull. [from NCI]

Clinical features

Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Oxycephaly
MedGen UID:
10522
Concept ID:
C0030044
Congenital Abnormality
Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.
Dolichocephaly
MedGen UID:
65142
Concept ID:
C0221358
Congenital Abnormality
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Abnormality of the skull
MedGen UID:
488801
Concept ID:
C0235942
Anatomical Abnormality
An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones.
Oxycephaly
MedGen UID:
10522
Concept ID:
C0030044
Congenital Abnormality
Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.
Dolichocephaly
MedGen UID:
65142
Concept ID:
C0221358
Congenital Abnormality
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Abnormality of the skull
MedGen UID:
488801
Concept ID:
C0235942
Anatomical Abnormality
An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones.

Term Hierarchy

Recent clinical studies

Etiology

Lin Y, Gao H, Ai S, Eswarakumar JV, Li T, Liu B, Jiang H, Liu Y, Liu X, Li Y, Ni Y, Chen J, Lin Z, Liang X, Jin C, Huang X, Lu L, Liu Y
Mol Med Rep 2016 Sep;14(3):1941-6. Epub 2016 Jul 11 doi: 10.3892/mmr.2016.5497. PMID: 27430617Free PMC Article
Ke R, Yang X, Tianyi C, Ge M, Lei J, Mu X
J Craniofac Surg 2015 Mar;26(2):584-6. doi: 10.1097/SCS.0000000000001472. PMID: 25759925
Paumard-Hernández B, Berges-Soria J, Barroso E, Rivera-Pedroza CI, Pérez-Carrizosa V, Benito-Sanz S, López-Messa E, Santos F, García-Recuero II, Romance A, Ballesta-Martínez JM, López-González V, Campos-Barros Á, Cruz J, Guillén-Navarro E, Sánchez Del Pozo J, Lapunzina P, García-Miñaur S, Heath KE
Eur J Hum Genet 2015 Jul;23(7):907-14. Epub 2014 Oct 1 doi: 10.1038/ejhg.2014.205. PMID: 25271085Free PMC Article
Seruya M, Oh AK, Boyajian MJ, Myseros JS, Yaun AL, Keating RF, Rogers GF
J Craniofac Surg 2013 Jan;24(1):96-8. doi: 10.1097/SCS.0b013e318270fb83. PMID: 23348263
Anderson PJ, Netherway DJ, Cox TC, Roscioli T, David DJ
J Craniofac Surg 2006 Jan;17(1):166-72. doi: 10.1097/01.scs.0000169000.58376.0f. PMID: 16432427

Diagnosis

Janssen A, Hosen MJ, Jeannin P, Coucke PJ, De Paepe A, Vanakker OM
Am J Med Genet A 2013 Sep;161A(9):2352-7. Epub 2013 Aug 5 doi: 10.1002/ajmg.a.36077. PMID: 23918290
Castori M, Silvestri E, Pedace L, Marseglia G, Tempera A, Antigoni I, Torricelli F, Majore S, Grammatico P
Am J Med Genet A 2009 Oct;149A(10):2193-9. doi: 10.1002/ajmg.a.32763. PMID: 19731360
Hing AV, Click ES, Holder U, Seto ML, Vessey K, Gruss J, Hopper R, Cunningham ML
Am J Med Genet A 2009 May;149A(5):1024-32. doi: 10.1002/ajmg.a.32782. PMID: 19396832
Wong LJ, Chen TJ, Dai P, Bird L, Muenke M
Am J Med Genet 2001 Aug 15;102(3):282-5. PMID: 11484208
Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, Robin NH, Nwokoro N, Mulvihill JJ, Losken HW, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA, Hollway G, Adès LC, Haan EA, Mulley JC, Cohen MM Jr, Bellus GA, Francomano CA, Moloney DM, Wall SA, Wilkie AO
Am J Hum Genet 1997 Mar;60(3):555-64. PMID: 9042914Free PMC Article

Therapy

Li X, Young NM, Tropp S, Hu D, Xu Y, Hallgrímsson B, Marcucio RS
Hum Mol Genet 2013 Dec 20;22(25):5160-72. Epub 2013 Aug 1 doi: 10.1093/hmg/ddt369. PMID: 23906837Free PMC Article

Prognosis

Wenger TL, Bhoj EJ, Wetmore RF, Mennuti MT, Bartlett SP, Mollen TJ, McDonald-McGinn DM, Zackai EH
Am J Med Genet A 2015 Apr;167A(4):852-7. Epub 2015 Feb 23 doi: 10.1002/ajmg.a.36985. PMID: 25706251
Agochukwu NB, Solomon BD, Muenke M
Childs Nerv Syst 2012 Sep;28(9):1447-63. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1756-2. PMID: 22872262Free PMC Article
Spaggiari E, Aboura A, Sinico M, Mabboux P, Dupont C, Delezoide AL, Guimiot F
Eur J Med Genet 2012 Aug-Sep;55(8-9):498-501. Epub 2012 May 5 doi: 10.1016/j.ejmg.2012.04.006. PMID: 22569119
Hing AV, Click ES, Holder U, Seto ML, Vessey K, Gruss J, Hopper R, Cunningham ML
Am J Med Genet A 2009 May;149A(5):1024-32. doi: 10.1002/ajmg.a.32782. PMID: 19396832
Anderson PJ, Netherway DJ, Cox TC, Roscioli T, David DJ
J Craniofac Surg 2006 Jan;17(1):166-72. doi: 10.1097/01.scs.0000169000.58376.0f. PMID: 16432427

Clinical prediction guides

Lin Y, Gao H, Ai S, Eswarakumar JV, Li T, Liu B, Jiang H, Liu Y, Liu X, Li Y, Ni Y, Chen J, Lin Z, Liang X, Jin C, Huang X, Lu L, Liu Y
Mol Med Rep 2016 Sep;14(3):1941-6. Epub 2016 Jul 11 doi: 10.3892/mmr.2016.5497. PMID: 27430617Free PMC Article
Zhuang L, Bluteau G, Trueb B
Comp Biochem Physiol B Biochem Mol Biol 2015 Aug;186:43-50. Epub 2015 Apr 28 doi: 10.1016/j.cbpb.2015.04.009. PMID: 25934085
Paumard-Hernández B, Berges-Soria J, Barroso E, Rivera-Pedroza CI, Pérez-Carrizosa V, Benito-Sanz S, López-Messa E, Santos F, García-Recuero II, Romance A, Ballesta-Martínez JM, López-González V, Campos-Barros Á, Cruz J, Guillén-Navarro E, Sánchez Del Pozo J, Lapunzina P, García-Miñaur S, Heath KE
Eur J Hum Genet 2015 Jul;23(7):907-14. Epub 2014 Oct 1 doi: 10.1038/ejhg.2014.205. PMID: 25271085Free PMC Article
Hing AV, Click ES, Holder U, Seto ML, Vessey K, Gruss J, Hopper R, Cunningham ML
Am J Med Genet A 2009 May;149A(5):1024-32. doi: 10.1002/ajmg.a.32782. PMID: 19396832
Twigg SR, Healy C, Babbs C, Sharpe JA, Wood WG, Sharpe PT, Morriss-Kay GM, Wilkie AO
Dev Dyn 2009 Feb;238(2):331-42. doi: 10.1002/dvdy.21790. PMID: 19086028

Recent systematic reviews

Stater BJ, Oomen KP, Modi VK
JAMA Otolaryngol Head Neck Surg 2015 Jan;141(1):73-7. doi: 10.1001/jamaoto.2014.2790. PMID: 25375853
Hatch NE
Crit Rev Eukaryot Gene Expr 2010;20(4):295-311. PMID: 21395503
de Heer IM, de Klein A, van den Ouweland AM, Vermeij-Keers C, Wouters CH, Vaandrager JM, Hovius SE, Hoogeboom JM
Plast Reconstr Surg 2005 Jun;115(7):1894-902; discussion 1903-5. PMID: 15923834

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center